Peroxisomal disorders
Gene: SCP2EnsemblGeneIds (GRCh38): ENSG00000116171
EnsemblGeneIds (GRCh37): ENSG00000116171
OMIM: 184755, Gene2Phenotype
SCP2 is in 12 panels
3 reviews
Zornitza Stark (Australian Genomics)
Two families reported. Second individual's MRI findings were more in keeping with an iron deposition disorder rather than a leukodystrophy.Created: 28 Mar 2022, 3:39 a.m. | Last Modified: 28 Mar 2022, 3:39 a.m.
Panel Version: 1.16
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukoencephalopathy with dystonia and motor neuropathy, MIM#613724
Publications
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. At least three variants reported. On the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951.Created: 22 Aug 2016, 1:52 p.m.
Ian Berry (Leeds Genetics Laboratory)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- UKGTN
- Phenotypes
-
- Leukoencephalopathy with dystonia and motor neuropathy 613724
- OMIM
- 184755
- Clinvar variants
- Variants in SCP2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Neonatal cholestasis
- Inherited white matter disorders
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- White matter disorders and cerebral calcification - narrow panel
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Hereditary neuropathy
- Adult onset dystonia, chorea or related movement disorder
- Peroxisomal disorders
- Hereditary neuropathy or pain disorder
- Early onset dystonia
History Filter Activity
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to V1 3rd October 2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for SCP2 were set to 25655951; 26497993;
Upload gene information
Sarah Leigh (Genomics England Curator)SCP2 was added to Peroxisomal disorderspanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene SCP2 were set to Leukoencephalopathy with dystonia and motor neuropathy 613724
Created
Ian Berry (Leeds Genetics Laboratory)SCP2 was created by [email protected]
Added New Source
Ian Berry (Leeds Genetics Laboratory)SCP2 was added to Peroxisomal disorderspanel. Sources: Expert list